常染色体三体中母亲年龄与染色体大小的关系。
The relationship between maternal age and chromosome size in autosomal trisomy.
作者信息
Risch N, Stein Z, Kline J, Warburton D
出版信息
Am J Hum Genet. 1986 Jul;39(1):68-78.
The pattern of maternal age-specific incidence of autosomal trisomy in spontaneous abortions was examined for each chromosome for which a sufficient number of trisomies was observed. This included chromosomes 2, 4, 7-10, 13-16, 18, and 20-22. The rate of increase after age 30 for each of the small chromosomes (groups D-G) was similar, with the exception of chromosome 16, which showed a significantly shallower rate. The C group chromosomes tended to have an intermediate rate of increase after age 30, with the exception of chromosome 7, which had a pattern similar to the smaller chromosomes. The larger chromosomes (2 and 4) had the smallest rate of increase. There was a significant relationship between chromosome size and rate of increase after age 30 (after excluding chromosome 16), but not with rate of increase before age 30. The results suggest that autosomal trisomies may be of heterogeneous origin, with a maternal age-related factor associated with chromosome size and other sources unrelated to chromosome size. Additional evidence for and against this hypothesis is discussed.
针对观察到足够数量三体性的每条染色体，研究了自然流产中常染色体三体性的产妇年龄特异性发病率模式。这包括2号、4号、7 - 10号、13 - 16号、18号以及20 - 22号染色体。除了16号染色体显示出明显较平缓的增长率外，30岁之后每个小染色体（D - G组）的增长率相似。C组染色体在30岁之后往往具有中等增长率，7号染色体除外，其模式与较小染色体相似。较大的染色体（2号和4号）增长率最小。30岁之后染色体大小与增长率之间存在显著关系（排除16号染色体后），但与30岁之前的增长率无关。结果表明，常染色体三体性可能起源各异，与产妇年龄相关的因素与染色体大小有关，而其他来源与染色体大小无关。讨论了支持和反对这一假设的其他证据。
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